(PDF) Identification of de novo EP300 and PLAU variants in a
Por um escritor misterioso
Last updated 04 abril 2025


Pathogenic variants detected by RNA sequencing in Cornelia de

Identifying collagen VI as a target of fibrotic diseases regulated

Case report: a Chinese girl like atypical Rubinstein–Taybi

DECIPHER: Supporting the interpretation and sharing of rare

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2

Precision therapy for lymphoma—current state and future directions

Exome sequencing study of 20 patients with high myopia [PeerJ]

Neurodevelopmental disease genes implicated by de novo mutation

Variant recurrence in neurodevelopmental disorders: the use of

Pathogenic variants detected by RNA sequencing in Cornelia de

Frontiers The role of noncoding genetic variants in cardiomyopathy
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